Tricho-hepato-enteric syndrome presenting with mild colitis
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Updated: Jun 28, 2026

Fecal Microbiota Transplantation via Colonoscopy for Recurrent C. difficile Infection
Published on: December 8, 2014
Odul Egritas1, Buket Dalgic, Meltem Onder
1Department of Pediatric Gastroenterology, Gazi University School of Medicine, Ankara, Turkey. odulmd2003@yahoo.com
Introduction:
A four and half-year-old girl was admitted to our clinic with the complaints of diarrhea since birth and failure to thrive.
Discussion:
The characteristic findings in physical examination were facial dysmorphism, hepatomegaly, and wooly hair. Trichorrhexis nodosa was established in microscopic hair examination. Colonoscopy and histopathologic examination of colonic mucosa revealed mild colitis. In the light of previously published cases, this patient was accepted as a mild variant of syndromic (phenotypic) diarrhea or tricho-hepato-enteric syndrome. We conclude that a mild phenotypic variant of this disease exists that may present with colitis.
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